"Baylor Genetics"[submitter] AND "GAREM2"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495727	NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	GAREM2, HADHA (F744fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675975	NM_000182.5(HADHA):c.2193_2194dup (p.Arg732fs)	GAREM2, HADHA (R732fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675977	NM_000182.5(HADHA):c.2183_2190del (p.Lys728fs)	GAREM2, HADHA (K728fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 194917	NM_000182.5(HADHA):c.2146+1G>A	HADHA, GAREM2	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 8733	NM_000182.5(HADHA):c.2132dup (p.Pro712fs)	GAREM2, HADHA (P712fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2675970	NM_000182.5(HADHA):c.2090_2115del (p.Pro697fs)	GAREM2, HADHA (P697fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 449719	NM_000182.5(HADHA):c.2114T>A (p.Val705Asp)	GAREM2, HADHA (V705D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 429439	NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg)	GAREM2, HADHA (G703R)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3241731	NM_000182.5(HADHA):c.2081del (p.Leu694fs)	GAREM2, HADHA (L694fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675973	NM_000182.5(HADHA):c.2064_2081delinsTGGCCTCTGA (p.Leu689_Leu694delinsGlyLeuTer)	GAREM2, HADHA	Indel (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675976	NM_000182.5(HADHA):c.2077del (p.Ile693fs)	GAREM2, HADHA (I693fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 1031452	NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr)	GAREM2, HADHA (C688Y)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GUncertain significance
Select item 948895	NM_000182.5(HADHA):c.2027G>A (p.Arg676His)	GAREM2, HADHA (R676H)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1065948	NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys)	GAREM2, HADHA (R676C)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2048816	NM_000182.5(HADHA):c.2020dup (p.Gln674fs)	GAREM2, HADHA (Q674fs)	Duplication (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 189089	NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	GAREM2, HADHA (L661fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 188712	NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer)	HADHA, GAREM2	Deletion (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 2675971	NM_000182.5(HADHA):c.1937_1940del (p.Lys646fs)	GAREM2, HADHA (K646fs)	Microsatellite (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 203745	NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs)	GAREM2, HADHA (E641fs)	Duplication (frameshift variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 2927833	NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)	GAREM2, HADHA (Y639*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1912385	NM_000182.5(HADHA):c.1893del (p.Lys631fs)	GAREM2, HADHA (K631fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1725512	NM_000182.5(HADHA):c.1844dup (p.Asn615fs)	GAREM2, HADHA (N615fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 504151	NM_000182.5(HADHA):c.1814_1815del (p.Lys605fs)	GAREM2, HADHA (K605fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GLikely pathogenic
Select item 370726	NM_000182.5(HADHA):c.1811del (p.Gly604fs)	GAREM2, HADHA (G604fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +2 more	GPathogenic/Likely pathogenic
Select item 188962	NM_000182.5(HADHA):c.1793_1794del (p.His598fs)	HADHA, GAREM2 (H598fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GPathogenic/Likely pathogenic
Select item 845656	NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs)	GAREM2, HADHA (L574fs)	Deletion (frameshift variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 550418	NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro)	GAREM2, HADHA (L571P)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2954233	NM_000182.5(HADHA):c.1689+2T>C	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 801655	NM_000182.5(HADHA):c.1689+2T>G	GAREM2, HADHA	Single nucleotide variant (splice donor variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 8732	NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter)	GAREM2, HADHA (R560*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic
Select item 3241729	NM_000182.5(HADHA):c.1653_1668del (p.Ala552fs)	GAREM2, HADHA (A552fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 2675964	NM_000182.5(HADHA):c.1654G>C (p.Ala552Pro)	GAREM2, HADHA (A552P)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 651987	NM_000182.5(HADHA):c.1644del (p.Arg549fs)	GAREM2, HADHA (R549fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675963	NM_000182.5(HADHA):c.1549del (p.Thr517fs)	HADHA, GAREM2 (T517fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675968	NM_000182.5(HADHA):c.1533dup (p.Ile512fs)	GAREM2, HADHA (I512fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GPathogenic
Select item 100085	NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)	GAREM2, HADHA (E510Q)	Single nucleotide variant (missense variant)	HADHA-related disorder +5 more	GPathogenic
Select item 555246	NM_000182.5(HADHA):c.1493A>G (p.His498Arg)	HADHA, GAREM2 (H498R)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 393282	NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser)	GAREM2, HADHA (A485S)	Single nucleotide variant (missense variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +3 more	GUncertain significance
Select item 1726239	NM_000182.5(HADHA):c.1432del (p.Ala478fs)	GAREM2, HADHA (A478fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 3241728	NM_000182.5(HADHA):c.1351del (p.Asp451fs)	GAREM2, HADHA (D451fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 370401	NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter)	GAREM2, HADHA (K413*)	Single nucleotide variant (nonsense)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2675965	NM_000182.5(HADHA):c.1221-2A>G	GAREM2, HADHA	Single nucleotide variant (splice acceptor variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 449455	NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter)	GAREM2, HADHA (R399*)	Single nucleotide variant (nonsense)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1029697	NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr)	GAREM2, HADHA (A392T)	Single nucleotide variant (missense variant)	Mitochondrial trifunctional protein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3241732	NM_000182.5(HADHA):c.1165del (p.Asp391fs)	GAREM2, HADHA (D391fs)	Deletion (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 3241727	NM_000182.5(HADHA):c.1096_1097dup (p.Leu367fs)	GAREM2, HADHA (L367fs)	Duplication (frameshift variant)	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	GLikely pathogenic
Select item 370400	NM_000182.5(HADHA):c.1086-3_1092del	GAREM2, HADHA	Deletion (splice acceptor variant)	Mitochondrial trifunctional protein deficiency +1 more	GPathogenic/Likely pathogenic

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Items: 47